HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75005920A>T , CM000676.2:g.75005920A>T | GRCh38 |
NC_000014.8:g.75472623A>T , CM000676.1:g.75472623A>T | GRCh37 |
NC_000014.7:g.74542376A>T | NCBI36 |
NG_013333.1:g.8012A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266126.10:c.652A>T MANE Select | ENSP00000266126.5:p.Thr218Ser | |
ENST00000266126.9:c.652A>T | ENSP00000266126.5:p.Thr218Ser | |
ENST00000553401.5:c.650A>T | ENSP00000451681.1:n.650A>T | |
ENST00000554748.2:c.16A>T | ENSP00000452582.2:p.Thr6Ser | |
ENST00000556028.5:c.621A>T | ENSP00000452311.1:p.Ter207Cys | |
NM_014239.3:c.652A>T | NP_055054.1:p.Thr218Ser | |
NM_014239.4:c.652A>T MANE Select | NP_055054.1:p.Thr218Ser |